Genetic discrimination: emerging ethical challenges in the context of advancing technology

Chapman, C. P.; Mehta, Kripa Sanjay; Parent, Brendan; Caplan, Arthur L.

doi:10.1093/jlb/lsz016

Cited by 51 publications

(26 citation statements)

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“…Users can also order a DNA test kit through the app the workplace, issues when seeking insurance, and general social situations (Williams et al 2010). As genetic testing is becoming more prevalent and accurate due to an evergrowing diagnostic capability, it is apparent that there are emerging ethical challenges associated with advancing technology (Chapman et al 2020). Some countries have responded by enacting specific policies, such as the USA's Genetic Information Non-discrimination Act (GINA) ('The ' 2009).…”

Section: Discussionmentioning

confidence: 99%

Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality

et al. 2022

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Close relative (consanguineous) marriage is widely practised globally, and it increases the risk of genetic disorders. Mobile apps may increase awareness and education regarding the associated risks in a sensitive, engaging, and accessible manner. This systematic review of patient-facing genetic/genomic mobile apps explores content, function, and quality. We searched the NHS Apps Library and the UK Google Play and Apple App stores for patient-facing genomic/genetic smartphone apps. Descriptive information and information on content was extracted and summarized. Readability was examined using the Flesch–Kincaid metrics. Two raters assessed each app, using the Mobile App Rating Scale (MARS) and the IMS Institute for Healthcare Informatics functionality score. A total of 754 apps were identified, of which 22 met the eligibility criteria. All apps intended to inform/educate users, while 32% analyzed genetic data, and 18% helped to diagnose genetic conditions. Most (68%) were clearly about genetics, but only 14% were affiliated with a medical/health body or charity, and only 36% had a privacy strategy. Mean reading scores were 35 (of 100), with the average reading age being equivalent to US grade 12 (UK year 13). On average, apps had 3.3 of the 11 IMS functionality criteria. The mean MARS quality score was 3.2 ± 0.7. Half met the minimum acceptability score (3 of 5). None had been formally evaluated. It was evident that there are few high-quality genomic/genetic patient-facing apps available in the UK. This demonstrates a need for an accessible, culturally sensitive, evidence-based app to improve genetic literacy within patient populations and specific communities.

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Section: Discussionmentioning

confidence: 99%

Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality

et al. 2022

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“…Finally, where there is uncertainty in the interpretation of an individual's genetic information, the potential for future genetic discrimination is important to consider [89]. Issues relating to disclosure of genetic test results to employers and insurers may arise and are further complicated by uncertainty regarding the clinical importance of the heterozygous genotype.…”

Section: Practical Considerationsmentioning

confidence: 99%

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges

Jeyaraj

Bounford

Ruth

et al. 2021

Genes

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Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing methods can facilitate a prompt diagnosis in some of these cases; application of these methods in patients with liver diseases of unknown cause has also uncovered novel gene-disease associations and improved our understanding of physiological bile secretion and flow. By helping to define the molecular basis of certain cholestatic disorders, these methods have also identified new targets for therapy as well patient subgroups more likely to benefit from specific therapies. At the same time, sequencing methods have presented new diagnostic challenges, such as the interpretation of single heterozygous genetic variants. This article discusses those challenges in the context of neonatal and infantile cholestasis, focusing on difficulties in predicting variant pathogenicity, the possibility of other causal variants not identified by the genetic screen used, and phenotypic variability among patients with variants in the same genes. A prospective, observational study performed between 2010–2013, which sequenced six important genes (ATP8B1, ABCB11, ABCB4, NPC1, NPC2 and SLC25A13) in an international cohort of 222 patients with infantile liver disease, is given as an example of potential benefits and challenges that clinicians could face having received a complex genetic result. Further studies including large cohorts of patients with paediatric liver disease are needed to clarify the spectrum of phenotypes associated with, as well as appropriate clinical response to, single heterozygous variants in cholestasis-associated genes.

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“… 22 Furthermore, theoretical concerns about possible discrimination in obtaining medical and life insurance for someone with a “genetic disease” may negatively influence one’s pursuit of genetic testing. 23 …”

Section: Diagnosismentioning

confidence: 99%

Past, Present, and Future of Familial Hypercholesterolemia Management

Rocha

Santos

2021

Methodist DeBakey Cardiovascular Journal

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Familial hypercholesterolemia (FH) is a monogenic form of severe hypercholesterolemia that, if left untreated, is associated with early onset of atherosclerosis. FH derives from genetic variants that lead to inefficient hepatic clearance of low-density lipoprotein (LDL) particles from the circulation. The FH phenotype is encountered in approximately 1 of every 300 people. The risk of atherosclerotic cardiovascular disease (ASCVD) is higher in those with FH than in normolipidemic individuals and in those with polygenic hypercholesterolemia. FH is usually diagnosed by clinical scores that consider hypercholesterolemia, family history of early ASCVD and hypercholesterolemia, and cutaneous stigmata. Genetic diagnosis is important and should be offered to individuals suspected of FH. Family cascade screening is important to identify asymptomatic hypercholesterolemic individuals. Despite the high risk of ASCVD, this risk is heterogenous in heterozygous FH and depends not only on high LDL cholesterol (LDL-C) but also on other risk biomarkers. Risk can be evaluated by considering biomarkers such as male sex, late-onset therapy (> age 40), LDL-C > 310 mg/dL, low high-density lipoprotein cholesterol, elevated lipoprotein(a), obesity, diabetes, and hypertension by using specific risk equations and by detecting subclinical coronary atherosclerosis. Statins are the main therapy for FH and change the natural history of ASCVD; however, most individuals persist with elevated LDL-C. PCSK9 inhibitors provide robust and safe LDL-C lowering in FH, although elevated costs preclude their widespread use. Newer therapies such as ANGPTL3 inhibitors add intensive LDL-C lowering for refractory forms of FH. Finally, while it is possible to normalize LDL-C in people with FH, the disease unfortunately is still severely underdiagnosed and undertreated.

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Genetic discrimination: emerging ethical challenges in the context of advancing technology

Cited by 51 publications

References 0 publications

Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality

Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges

Past, Present, and Future of Familial Hypercholesterolemia Management

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